Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review

Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part i...
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Autor*in:	Ashraf, Mussarat [verfasserIn] Alam, Faiza [verfasserIn] Azhar, Arfa [verfasserIn] Riffat, Sumaira [verfasserIn] Afzal, Kamran [verfasserIn] Rehman, Rehana [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2024

Schlagwörter:	Vitamin D Vitamin D receptor Polycystic ovary syndrome (PCOS) Infertility Single nucleotide polymorphisms (SNPs)

Anmerkung:	© The Author(s) 2024

Übergeordnetes Werk:	Enthalten in: Discover public health - BioMed Central, 2024, 21(2024), 1 vom: 20. Sept.
Übergeordnetes Werk:	volume:21 ; year:2024 ; number:1 ; day:20 ; month:09

Links:	Volltext

DOI / URN:	10.1186/s12982-024-00212-y

Katalog-ID:	SPR057407924

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520			\|a Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles.
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allfields	10.1186/s12982-024-00212-y doi (DE-627)SPR057407924 (SPR)s12982-024-00212-y-e DE-627 ger DE-627 rakwb eng Ashraf, Mussarat verfasserin (orcid)0000-0003-4410-2802 aut Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. Vitamin D (dpeaa)DE-He213 Vitamin D receptor (dpeaa)DE-He213 Polycystic ovary syndrome (PCOS) (dpeaa)DE-He213 Infertility (dpeaa)DE-He213 Single nucleotide polymorphisms (SNPs) (dpeaa)DE-He213 Alam, Faiza verfasserin (orcid)0000-0002-4131-129X aut Azhar, Arfa verfasserin (orcid)0000-0002-9343-1218 aut Riffat, Sumaira verfasserin (orcid)0000-0003-1619-3575 aut Afzal, Kamran verfasserin aut Rehman, Rehana verfasserin (orcid)0000-0001-9730-5553 aut Enthalten in Discover public health BioMed Central, 2024 21(2024), 1 vom: 20. Sept. Online-Ressource (DE-627)1887532668 (DE-600)3186401-6 3005-0774 nnns volume:21 year:2024 number:1 day:20 month:09 https://dx.doi.org/10.1186/s12982-024-00212-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2024 1 20 09
spelling	10.1186/s12982-024-00212-y doi (DE-627)SPR057407924 (SPR)s12982-024-00212-y-e DE-627 ger DE-627 rakwb eng Ashraf, Mussarat verfasserin (orcid)0000-0003-4410-2802 aut Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. Vitamin D (dpeaa)DE-He213 Vitamin D receptor (dpeaa)DE-He213 Polycystic ovary syndrome (PCOS) (dpeaa)DE-He213 Infertility (dpeaa)DE-He213 Single nucleotide polymorphisms (SNPs) (dpeaa)DE-He213 Alam, Faiza verfasserin (orcid)0000-0002-4131-129X aut Azhar, Arfa verfasserin (orcid)0000-0002-9343-1218 aut Riffat, Sumaira verfasserin (orcid)0000-0003-1619-3575 aut Afzal, Kamran verfasserin aut Rehman, Rehana verfasserin (orcid)0000-0001-9730-5553 aut Enthalten in Discover public health BioMed Central, 2024 21(2024), 1 vom: 20. Sept. Online-Ressource (DE-627)1887532668 (DE-600)3186401-6 3005-0774 nnns volume:21 year:2024 number:1 day:20 month:09 https://dx.doi.org/10.1186/s12982-024-00212-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2024 1 20 09
allfields_unstemmed	10.1186/s12982-024-00212-y doi (DE-627)SPR057407924 (SPR)s12982-024-00212-y-e DE-627 ger DE-627 rakwb eng Ashraf, Mussarat verfasserin (orcid)0000-0003-4410-2802 aut Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. Vitamin D (dpeaa)DE-He213 Vitamin D receptor (dpeaa)DE-He213 Polycystic ovary syndrome (PCOS) (dpeaa)DE-He213 Infertility (dpeaa)DE-He213 Single nucleotide polymorphisms (SNPs) (dpeaa)DE-He213 Alam, Faiza verfasserin (orcid)0000-0002-4131-129X aut Azhar, Arfa verfasserin (orcid)0000-0002-9343-1218 aut Riffat, Sumaira verfasserin (orcid)0000-0003-1619-3575 aut Afzal, Kamran verfasserin aut Rehman, Rehana verfasserin (orcid)0000-0001-9730-5553 aut Enthalten in Discover public health BioMed Central, 2024 21(2024), 1 vom: 20. Sept. Online-Ressource (DE-627)1887532668 (DE-600)3186401-6 3005-0774 nnns volume:21 year:2024 number:1 day:20 month:09 https://dx.doi.org/10.1186/s12982-024-00212-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2024 1 20 09
allfieldsGer	10.1186/s12982-024-00212-y doi (DE-627)SPR057407924 (SPR)s12982-024-00212-y-e DE-627 ger DE-627 rakwb eng Ashraf, Mussarat verfasserin (orcid)0000-0003-4410-2802 aut Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. Vitamin D (dpeaa)DE-He213 Vitamin D receptor (dpeaa)DE-He213 Polycystic ovary syndrome (PCOS) (dpeaa)DE-He213 Infertility (dpeaa)DE-He213 Single nucleotide polymorphisms (SNPs) (dpeaa)DE-He213 Alam, Faiza verfasserin (orcid)0000-0002-4131-129X aut Azhar, Arfa verfasserin (orcid)0000-0002-9343-1218 aut Riffat, Sumaira verfasserin (orcid)0000-0003-1619-3575 aut Afzal, Kamran verfasserin aut Rehman, Rehana verfasserin (orcid)0000-0001-9730-5553 aut Enthalten in Discover public health BioMed Central, 2024 21(2024), 1 vom: 20. Sept. Online-Ressource (DE-627)1887532668 (DE-600)3186401-6 3005-0774 nnns volume:21 year:2024 number:1 day:20 month:09 https://dx.doi.org/10.1186/s12982-024-00212-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2024 1 20 09
allfieldsSound	10.1186/s12982-024-00212-y doi (DE-627)SPR057407924 (SPR)s12982-024-00212-y-e DE-627 ger DE-627 rakwb eng Ashraf, Mussarat verfasserin (orcid)0000-0003-4410-2802 aut Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2024 Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. Vitamin D (dpeaa)DE-He213 Vitamin D receptor (dpeaa)DE-He213 Polycystic ovary syndrome (PCOS) (dpeaa)DE-He213 Infertility (dpeaa)DE-He213 Single nucleotide polymorphisms (SNPs) (dpeaa)DE-He213 Alam, Faiza verfasserin (orcid)0000-0002-4131-129X aut Azhar, Arfa verfasserin (orcid)0000-0002-9343-1218 aut Riffat, Sumaira verfasserin (orcid)0000-0003-1619-3575 aut Afzal, Kamran verfasserin aut Rehman, Rehana verfasserin (orcid)0000-0001-9730-5553 aut Enthalten in Discover public health BioMed Central, 2024 21(2024), 1 vom: 20. Sept. Online-Ressource (DE-627)1887532668 (DE-600)3186401-6 3005-0774 nnns volume:21 year:2024 number:1 day:20 month:09 https://dx.doi.org/10.1186/s12982-024-00212-y X:SPRINGER Resolving-System kostenfrei Volltext SYSFLAG_0 GBV_SPRINGER GBV_ILN_20 GBV_ILN_22 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 21 2024 1 20 09
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topic_facet	Vitamin D Vitamin D receptor Polycystic ovary syndrome (PCOS) Infertility Single nucleotide polymorphisms (SNPs)
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authorswithroles_txt_mv	Ashraf, Mussarat @@aut@@ Alam, Faiza @@aut@@ Azhar, Arfa @@aut@@ Riffat, Sumaira @@aut@@ Afzal, Kamran @@aut@@ Rehman, Rehana @@aut@@
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In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. 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author	Ashraf, Mussarat
spellingShingle	Ashraf, Mussarat misc Vitamin D misc Vitamin D receptor misc Polycystic ovary syndrome (PCOS) misc Infertility misc Single nucleotide polymorphisms (SNPs) Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review
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topic_title	Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review Vitamin D (dpeaa)DE-He213 Vitamin D receptor (dpeaa)DE-He213 Polycystic ovary syndrome (PCOS) (dpeaa)DE-He213 Infertility (dpeaa)DE-He213 Single nucleotide polymorphisms (SNPs) (dpeaa)DE-He213
topic	misc Vitamin D misc Vitamin D receptor misc Polycystic ovary syndrome (PCOS) misc Infertility misc Single nucleotide polymorphisms (SNPs)
topic_unstemmed	misc Vitamin D misc Vitamin D receptor misc Polycystic ovary syndrome (PCOS) misc Infertility misc Single nucleotide polymorphisms (SNPs)
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title	Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review
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title_full	Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review
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title_sort	unlocking the genetic mysteries: navigating vdr polymorphisms in polycystic ovary syndrome: a narrative review
title_auth	Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review
abstract	Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. © The Author(s) 2024
abstractGer	Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. © The Author(s) 2024
abstract_unstemmed	Abstract There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles. © The Author(s) 2024
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title_short	Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review
url	https://dx.doi.org/10.1186/s12982-024-00212-y
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author2	Alam, Faiza Azhar, Arfa Riffat, Sumaira Afzal, Kamran Rehman, Rehana
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up_date	2024-09-21T04:49:07.989Z
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In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. 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Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review

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